Unique variants in gene GATA6

Information The variants shown are described using the NM_005257.4 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
Legend  

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-37-9C>T r.(=) p.(=) g.19751060C>T Copied from the Exome Variant Server GATA6_000001 1/12056 0/8026 1/4030
1 c.-23C>G r.(=) p.(=) g.19751083C>G Copied from the Exome Variant Server GATA6_000002 1/12428 1/8286 0/4142
1 c.16G>A r.(?) p.(Gly6Ser) g.19751121G>A Copied from the Exome Variant Server GATA6_000003 2/12188 2/8142 0/4046
1 c.43G>C r.(?) p.(Gly15Arg) g.19751148G>C Copied from the Exome Variant Server GATA6_000004 266/12480 4/8282 262/4198
1 c.62C>G r.(?) p.(Ala21Gly) g.19751167C>G Copied from the Exome Variant Server GATA6_000005 5/12684 0/8406 5/4278
1 c.163_164insGGT r.(?) p.(Gly55_Gly56insCys) g.19751268_19751269insGGT Copied from the Exome Variant Server GATA6_000006 9/11188 6/7470 3/3718
1 c.183G>A r.(=) p.(=) g.19751288G>A Copied from the Exome Variant Server GATA6_000007 3/11678 3/7806 0/3872
1 c.222G>A r.(=) p.(=) g.19751327G>A Copied from the Exome Variant Server GATA6_000008 27/10718 0/7348 27/3370
1 c.282T>A r.(=) p.(=) g.19751387T>A Copied from the Exome Variant Server GATA6_000009 1/11226 1/7688 0/3538
1 c.352C>T r.(?) p.(Leu118Phe) g.19751457C>T Copied from the Exome Variant Server GATA6_000010 2/12774 0/8480 2/4294
1 c.370G>A r.(?) p.(Ala124Thr) g.19751475G>A Copied from the Exome Variant Server GATA6_000011 1/12596 1/8364 0/4232
1 c.432_434del r.(?) p.(Glu146del) g.19751537_19751539del Copied from the Exome Variant Server GATA6_000012 3/12306 3/8144 0/4162
1 c.968_970del r.(?) p.(His333del) g.19752073_19752075del Copied from the Exome Variant Server GATA6_000014 336/4524 218/2954 118/1570
1 c.968_970dup r.(?) p.(His333dup) g.19752073_19752075dup Copied from the Exome Variant Server GATA6_000013 10/4524 3/2954 7/1570
1 c.1136-26G>A r.(=) p.(=) g.19756890G>A Copied from the Exome Variant Server GATA6_000015 39/11626 0/7670 39/3956
1 c.1218C>T r.(=) p.(=) g.19756998C>T Copied from the Exome Variant Server GATA6_000016 1/12108 0/8076 1/4032
1 c.1263C>A r.(?) p.(Asn421Lys) g.19757043C>A Copied from the Exome Variant Server GATA6_000017 1/12624 1/8372 0/4252
1 c.1302+20C>T r.(=) p.(=) g.19757102C>T Copied from the Exome Variant Server GATA6_000018 247/10754 2/7176 245/3578
1 c.1303-19G>A r.(=) p.(=) g.19761395G>A Copied from the Exome Variant Server GATA6_000019 1/13006 0/8600 1/4406
1 c.1312C>T r.(?) p.(Arg438Trp) g.19761423C>T Copied from the Exome Variant Server GATA6_000020 1/13006 0/8600 1/4406
1 c.1320T>C r.(=) p.(=) g.19761431T>C Copied from the Exome Variant Server GATA6_000021 3/13006 0/8600 3/4406
1 c.1350A>G r.(=) p.(=) g.19761461A>G Copied from the Exome Variant Server GATA6_000022 13/13006 1/8600 12/4406
1 c.1374C>T r.(=) p.(=) g.19761485C>T Copied from the Exome Variant Server GATA6_000023 33/13006 28/8600 5/4406
1 c.1375G>A r.(?) p.(Ala459Thr) g.19761486G>A Copied from the Exome Variant Server GATA6_000024 10/13006 1/8600 9/4406
1 c.1428+33A>G r.(=) p.(=) g.19761572A>G Copied from the Exome Variant Server GATA6_000025 1/13006 1/8600 0/4406
1 c.1428+39T>C r.(=) p.(=) g.19761578T>C Copied from the Exome Variant Server GATA6_000026 5/13006 5/8600 0/4406
1 c.1428+40A>G r.(=) p.(=) g.19761579A>G Copied from the Exome Variant Server GATA6_000027 11/13006 10/8600 1/4406
1 c.1429-46T>A r.(=) p.(=) g.19762672T>A Copied from the Exome Variant Server GATA6_000028 1/12668 0/8486 1/4182
1 c.1429-44T>G r.(=) p.(=) g.19762674T>G Copied from the Exome Variant Server GATA6_000029 1/12672 1/8484 0/4188
1 c.1429-21G>A r.(=) p.(=) g.19762697G>A Copied from the Exome Variant Server GATA6_000030 2/12954 1/8582 1/4372
1 c.1516+10C>T r.(=) p.(=) g.19762815C>T Copied from the Exome Variant Server GATA6_000031 1/13006 1/8600 0/4406
1 c.1516+17G>A r.(=) p.(=) g.19762822G>A Copied from the Exome Variant Server GATA6_000032 6/13006 6/8600 0/4406
1 c.1516+19C>T r.(=) p.(=) g.19762824C>T Copied from the Exome Variant Server GATA6_000033 1/13006 0/8600 1/4406
1 c.1516+34T>A r.(=) p.(=) g.19762839T>A Copied from the Exome Variant Server GATA6_000034 1/13006 1/8600 0/4406
1 c.1517-43T>C r.(=) p.(=) g.19762858T>C Copied from the Exome Variant Server GATA6_000035 1/13006 0/8600 1/4406
1 c.1517-21G>T r.(=) p.(=) g.19762880G>T Copied from the Exome Variant Server GATA6_000036 1/13006 1/8600 0/4406
1 c.1526A>G r.(?) p.(Asn509Ser) g.19762910A>G Copied from the Exome Variant Server GATA6_000037 1/13006 0/8600 1/4406
1 c.1602A>G r.(=) p.(=) g.19762986A>G Copied from the Exome Variant Server GATA6_000038 53/13006 47/8600 6/4406
1 c.1605A>G r.(=) p.(=) g.19762989A>G Copied from the Exome Variant Server GATA6_000039 4/13006 4/8600 0/4406
1 c.1609A>C r.(?) p.(Thr537Pro) g.19762993A>C Copied from the Exome Variant Server GATA6_000040 1/13006 1/8600 0/4406
1 c.1620+7A>G r.(=) p.(=) g.19763011A>G Copied from the Exome Variant Server GATA6_000041 2819/13006 112/8600 2707/4406
1 c.1620+34C>T r.(=) p.(=) g.19763038C>T Copied from the Exome Variant Server GATA6_000042 1/13004 0/8598 1/4406
1 c.1620+40T>C r.(=) p.(=) g.19763044T>C Copied from the Exome Variant Server GATA6_000043 8/13004 0/8598 8/4406
1 c.1621-51T>C r.(=) p.(=) g.19780568T>C Copied from the Exome Variant Server GATA6_000044 8/13006 5/8600 3/4406
1 c.1621-47C>G r.(=) p.(=) g.19780572C>G Copied from the Exome Variant Server GATA6_000045 3/13006 3/8600 0/4406
1 c.1649G>C r.(?) p.(Gly550Ala) g.19780647G>C Copied from the Exome Variant Server GATA6_000046 1/13006 1/8600 0/4406
1 c.1663C>G r.(?) p.(Pro555Ala) g.19780661C>G Copied from the Exome Variant Server GATA6_000047 2/13006 1/8600 1/4406
1 c.1672A>G r.(?) p.(Ser558Gly) g.19780670A>G Copied from the Exome Variant Server GATA6_000048 1/13006 0/8600 1/4406
1 c.1723G>C r.(?) p.(Ala575Pro) g.19780721G>C Copied from the Exome Variant Server GATA6_000049 7/13006 5/8600 2/4406
1 c.*41C>T r.(=) p.(=) g.19780827C>T Copied from the Exome Variant Server GATA6_000050 99/12772 1/8408 98/4364
Legend